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. 2018 Feb 2;9:23. doi: 10.3389/fgene.2018.00023

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Copyright © 2018 Yang, Banerjee, Cao, Bai, Peng, Chen, Huang, Han, Feng, Yi, Song and Wu.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Bronchial ciliary electron microscopy of the proband (II-5). Proximal bronchial ciliary electron microscopy of the proband, (A) several microtubules in vertical section, microtubules run through from the top to the base, their relative location stay the same, (B) transverse section of the cilia, part of the cilia plasma membrane fusion to form composite cilia, (C) cilia in transverse section, red arrow:normal 9+2 structure, the radial spokes structures and DAs are faintly recognizable; yellow arrow: 9+0 structure, the position of peripheral microtubules are shifted, central microtubules disappear; blue and orange arrow:9+0 structure, the position of peripheral microtubules are completely irregular, central microtubules disappear, irregular shape of cross section; green arrow: composite cilia, irregular shape of cross section, one pair of central microtubules and several peripheral microtubules, complete confusion of position. Total chaos of radial spokes and DAs structures. (D) The distal bronchial mucosa cilia electron microscopy of the proband; red arrow: normal 9+2 structure, the radial spokes structures and DAs are recognizable; yellow arrow: the number and position of peripheral microtubules are normal, the central microtubules shifted; blue arrow: the position of one peripheral microtubule and central microtubule are shifted. (E) The middle section of bronchial mucosa cilia electron microscopy of the proband; red arrow: normal 9+2 structure, the radial spokes structures and DAs are faintly recognizable; yellow arrow: 8+0 structure, the number of peripheral microtubules are reduced, and position are completely irregular, central microtubules disappear; blue arrow: 8+2 structure, the number of peripheral microtubules are reduced, position of microtubules are shifted; orange arrow: 9+2 structure, the position of peripheral microtubules are shifted; green arrow: 9+2 structure, the position of all microtubules are shifted. (F) Bronchial ciliary electron microscopy of the proband’s sister showed more cells with oval synapses (Indicated by the red circle).